Freya Maclay

This is Freya. I first met Freya two years ago at her Christening. When we first met, nobody, not least her parents, my good friends Simone and Ally  knew that she harboured a genetic mutation that, in time, would turn her body against her. Tay Sachs occurs when a child inherits this genetic mutation from both parents. If both parents carry the mutation, as Simone and Ally do, there is 1 in 4 chance of the child having the disease. Being a carrier does not mean you have the disease, you must inherit two copies. The mutation is more prevalent in certain populations but anyone could be a carrier. Ally is from Scotland and Simone from Australia and they met in Hong Kong.

Having two copies of the mutation means that the child produces an enzyme (little proteins that our bodies make to help with chemical reactions) which does not function correctly. This enzyme is responsible for clearing a metabolite (a waste product) produced by cells. The waste product builds up in the childs body, to levels that become toxic, poisoning the cells, espeically in the brain and nervous system. This causes a relentless deterioration of mental and physical abilities. There is currently no cure or treatment.

I spend a good deal of my time working with, and advocating for Glioblastoma patients, which also does not have a cure, but having the priviledge to spend the weekend with Freya and her family in Hong Kong reminded me that brain tumours are not the only rare disease in town. The lifetime chance that a person will develop a cancerous brain or spinal cord tumor is less than 1 in 100, for Tay-Sachs it is 1 in 360,000. Yet carriers of the Tay–Sachs gene can be identified by a simple blood test, a test I had never even heard of, nor had Freya’s parents until she was diagnosed. 

This weekend gave me an opportunity to understand some of the complexity that the Maclay family face in living with Tay-Sachs in Hong Kong, the first reported case in the country. In the UK we can sometimes take the NHS for granted, but in Hong Kong the family are forced to research, source, rent or buy the medical equipment to give Freya the quality of life she deserves. Her needs are complex, so that means a lot of kit! She can no longer swallow properly and needs suction around the clock to keep her airways clear. When she stopped responding to her seziure mediciation, it was suggested to swap her to a keto diet, which she is fed enterally (through a tube), no doubt this would be provided on the perscription in the UK, yet in Hong Kong, the family have to spend £50 for each tub, which last three days. At times I wish we would provide better financial support in the UK, through disability allowances like PIP and ESA, yet in Hong Kong the Higher Disability Allowance is £405 a month, with no free perscriptions here that gets you 8 tubs of the food that Freya needs to help mange her epilsey.

Yet amongst the challenges that the Maclay family face, every hour of every day, there are little pockets of joy: Freya’s daily swim, which I was lucky to partipate in, at least until Ally warned me that doing bombs in swimming people next to a child who couldn’t swallow wasn’t my best idea!  The trip out in their car (now an essential for Freya’s wheelchair and numerous medical appointments) to a best friend’s birthday parties at the beach. I only wished we could liquidise the cake and feed it to her through her peg (feeding tube), I mean we could have, but it wasn’t a keto cake! Lunch in a nice resturant, to celebrate Simone (on Mother’s day – which is a different date internationally) who gives so much of herself to Freya, every single day. And not forgetting bath and bed time, at the end of every single day when Freya relaxes and slowly nods off to sleep, or she would have, if I had remembered to turn the light off, her mum and dad kiss her goodnight and no doubt wonder what the next day will bring.

You can find out more about Freya and Tay Sachs on her website and her crowd funder.

Ally and Simone, because they weren’t busy enough as it is, have turned fundraisers and campaigners and at the end of the month with be hosting their second fundraiser in Hong Kong.